Discordant non‐invasive prenatal testing (NIPT)–a systematic review

TS Hartwig, L Ambye, S Sørensen… - Prenatal …, 2017 - Wiley Online Library
With a high sensitivity and specificity, non‐invasive prenatal testing (NIPT) is an
incomparable screening test for fetal aneuploidy. However, the method is rather newly …

Fetal fraction and noninvasive prenatal testing: What clinicians need to know

L Hui, DW Bianchi - Prenatal diagnosis, 2020 - Wiley Online Library
The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms
used to interpret DNA sequencing results. It is an essential quality control component of …

Cell-free DNA methylome analysis for early preeclampsia prediction

M De Borre, H Che, Q Yu, L Lannoo, K De Ridder… - Nature Medicine, 2023 - nature.com
Preeclampsia (PE) is a leading cause for peripartal morbidity, especially if developing early
in gestation. To enable prophylaxis in the prevention of PE, pregnancies at risk of PE must …

[HTML][HTML] Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

D Liang, DS Cram, HU Tan, S Linpeng, Y Liu, H Sun… - Genetics in …, 2019 - Elsevier
Purpose To assess the clinical performance of an expanded noninvasive prenatal screening
(NIPS) test (“NIPS-Plus”) for detection of both aneuploidy and genome-wide microdeletion …

[HTML][HTML] Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA

N Wan, D Weinberg, TY Liu, K Niehaus, EA Ariazi… - BMC cancer, 2019 - Springer
Background Blood-based methods using cell-free DNA (cfDNA) are under development as
an alternative to existing screening tests. However, early-stage detection of cancer using …

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

MD Pertile, M Halks-Miller, N Flowers… - Science translational …, 2017 - science.org
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can
potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or …

Factors affecting levels of circulating cell‐free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing

SL Kinnings, JA Geis, E Almasri, H Wang… - Prenatal …, 2015 - Wiley Online Library
Objective Sufficient fetal DNA in a maternal plasma sample is required for accurate
aneuploidy detection via noninvasive prenatal testing, thus highlighting a need to …

[HTML][HTML] Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

RB Lefkowitz, JA Tynan, T Liu, Y Wu… - American journal of …, 2016 - Elsevier
Background Current cell-free DNA assessment of fetal chromosomes does not analyze and
report on all chromosomes. Hence, a significant proportion of fetal chromosomal …

Liquid Biopsy Based on Cell-Free DNA and RNA

C Loy, L Ahmann, I De Vlaminck… - Annual Review of …, 2024 - annualreviews.org
This review delves into the rapidly evolving landscape of liquid biopsy technologies based
on cell-free DNA (cfDNA) and cell-free RNA (cfRNA) and their increasingly prominent role in …

[HTML][HTML] New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis

C Sanchez, MW Snyder, R Tanos, J Shendure… - NPJ genomic …, 2018 - nature.com
Circulating cell-free DNA (cfDNA) has received increasing interest as an apparent
breakthrough approach in diagnostics, personalized medicine, and tumor biology. However …